Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs2273535 | 0.645 | 0.360 | 20 | 56386485 | missense variant | A/C;T | snv | 0.28 | 1 | ||
rs1553622530 | 2 | 214781220 | stop gained | C/T | snv | 1 | |||||
rs1131692162 | 17 | 43099781 | stop gained | C/A | snv | 1 | |||||
rs1555582520 | 17 | 43076486 | splice donor variant | A/G | snv | 1 | |||||
rs397508979 | 17 | 43092974 | frameshift variant | -/GAAAAGTGAA | ins | 1 | |||||
rs886037788 | 17 | 43091461 | frameshift variant | -/TCAA | ins | 1 | |||||
rs886037789 | 17 | 43071159 | frameshift variant | T/- | del | 1 | |||||
rs1555280073 | 13 | 32316454 | start lost | TAAAAATGCCTATTGG/- | delins | 1 | |||||
rs1555284442 | 13 | 32340234 | frameshift variant | G/- | del | 1 | |||||
rs398122710 | 13 | 32371100 | missense variant | G/A | snv | 1 | |||||
rs886037797 | 13 | 32332667 | frameshift variant | AACTAACC/- | delins | 1 | |||||
rs1057519825 | 0.882 | 0.120 | X | 101356176 | missense variant | C/G | snv | 1 | |||
rs1057519826 | 0.882 | 0.120 | X | 101356177 | missense variant | A/T | snv | 1 | |||
rs1555114766 | 11 | 108317486 | stop gained | G/A | snv | 1 | |||||
rs1555913881 | 22 | 28695841 | frameshift variant | T/- | del | 1 | |||||
rs587780170 | 0.851 | 0.120 | 22 | 28695786 | missense variant | C/A;G;T | snv | 2.8E-05; 8.0E-06 | 1 | ||
rs786202676 | 22 | 28696956 | missense variant | T/A;G | snv | 1 | |||||
rs1131692241 | 17 | 39723966 | inframe deletion | TGAGGGAAAACACAT/- | delins | 1 | |||||
rs1057519857 | 0.882 | 0.080 | 17 | 39724772 | missense variant | T/C | snv | 1 | |||
rs758222990 | 1.000 | 0.080 | 17 | 39725363 | missense variant | C/G;T | snv | 1.2E-05 | 1 | ||
rs1057519714 | 6 | 152094402 | missense variant | T/C | snv | 1 | |||||
rs1057519715 | 1.000 | 0.080 | 6 | 152098779 | missense variant | T/A | snv | 1 | |||
rs1057519716 | 6 | 152098782 | missense variant | C/A | snv | 1 | |||||
rs1057519717 | 6 | 152098785 | missense variant | T/G | snv | 1 | |||||
rs1057519827 | 6 | 152011697 | missense variant | G/C | snv | 1 |